Canonical Allele Identifier: CA1737394508

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592192T= , CM000669.2:g.117592192T=	GRCh38
NC_000007.13:g.117232246T= , CM000669.1:g.117232246T=	GRCh37
NC_000007.12:g.117019482T=	NCBI36
NG_016465.4:g.131409T= , LRG_663:g.131409T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2025T=	ENSP00000497673.2:p.Ala675=
ENST00000647978.2:c.*1739T=	ENSP00000497658.1:n.*1739T=
ENST00000649781.2:c.1842T=	ENSP00000497203.1:p.Ala614=
ENST00000685018.2:c.2025T=	ENSP00000510194.2:p.Ala675=
ENST00000687278.2:c.2025T=	ENSP00000509593.2:p.Ala675=
ENST00000699585.1:c.2025T=	ENSP00000514456.1:p.Ala675=
ENST00000699598.1:c.2025T=	ENSP00000514467.1:p.Ala675=
ENST00000699599.1:c.2025T=	ENSP00000514468.1:p.Ala675=
ENST00000699600.1:c.2025T=	ENSP00000514469.1:p.Ala675=
ENST00000699601.1:c.*325T=	ENSP00000514470.1:n.*325T=
ENST00000699602.1:c.2025T=	ENSP00000514471.1:p.Ala675=
ENST00000699604.1:c.*1849T=	ENSP00000514472.1:n.*1849T=
ENST00000699605.1:c.1599T=	ENSP00000514473.1:p.Ala533=
ENST00000003084.11:c.2025T= MANE Select	ENSP00000003084.6:p.Ala675=
ENST00000647978.1:c.*1739T=	ENSP00000497658.1:n.*1739T=
ENST00000648260.1:c.1402-10634T=	ENSP00000497957.1:n.1402-10634T=
ENST00000649406.1:c.1842T=	ENSP00000497965.1:p.Ala614=
ENST00000649781.1:c.1842T=	ENSP00000497203.1:p.Ala614=
ENST00000003084.10:c.2025T=	ENSP00000003084.6:p.Ala675=
ENST00000426809.5:c.1935T=	ENSP00000389119.1:p.Ala645=
NM_000492.3:c.2025T= , LRG_663t1:c.2025T=	NP_000483.3:p.Ala675=
XM_011515751.1:c.2115T=	XP_011514053.1:p.Ala705=
XM_011515752.1:c.2115T=	XP_011514054.1:p.Ala705=
XM_011515753.1:c.1782T=	XP_011514055.1:p.Ala594=
XM_011515754.1:c.1782T=	XP_011514056.1:p.Ala594=
NM_000492.4:c.2025T= MANE Select	NP_000483.3:p.Ala675=